Canonical Allele Identifier: CA370518792

Gene: HR

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22120781G>A , CM000670.2:g.22120781G>A	GRCh38
NC_000008.10:g.21978294G>A , CM000670.1:g.21978294G>A	GRCh37
NC_000008.9:g.22034239G>A	NCBI36
NG_008166.1:g.14737C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005144.5:c.2545C>T MANE Select	NP_005135.2:p.Gln849Ter
ENST00000381418.9:c.2545C>T MANE Select	ENSP00000370826.4:p.Gln849Ter
NM_005144.4:c.2545C>T	NP_005135.2:p.Gln849Ter
NM_018411.4:c.2545C>T	NP_060881.2:p.Gln849Ter
ENST00000312841.9:c.2545C>T	ENSP00000326765.8:p.Gln849Ter
ENST00000381418.8:c.2545C>T	ENSP00000370826.4:p.Gln849Ter
ENST00000517699.2:c.486C>T
ENST00000680789.1:c.2545C>T	ENSP00000505181.1:p.Gln849Ter
XM_005273569.1:c.2548C>T	XP_005273626.1:p.Gln850Ter
XM_005273569.2:c.2548C>T	XP_005273626.1:p.Gln850Ter
XM_006716367.1:c.2548C>T	XP_006716430.1:p.Gln850Ter
XM_006716367.2:c.2548C>T	XP_006716430.1:p.Gln850Ter